Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.2.1.3
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
aldehyde dehydrogenase (NAD+)
1.2.1.31
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
L-aminoadipate-semialdehyde dehydrogenase
1.2.1.8
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
betaine-aldehyde dehydrogenase
PDB | Resolution (Å) | PDB name |
---|---|---|
2J6L | 1.3 | Structure of aminoadipate-semialdehyde dehydrogenase |
4X0T | 2.4 | Structure ALDH7A1 inactivated by 4-diethylaminobenzaldehyde and complexed with NAD+ |
4X0U | 1.95 | Structure ALDH7A1 inactivated by 4-diethylaminobenzaldehyde |
4ZUK | 2.001 | Structure ALDH7A1 complexed with NAD+ |
4ZUL | 1.76 | Structure ALDH7A1 complexed with alpha-aminoadipate |
4ZVW | 2.4 | Structure of apo human ALDH7A1 in space group C2 |
4ZVX | 1.9 | Structure of apo human ALDH7A1 in space group P4212 |
4ZVY | 1.9 | Structure of human ALDH7A1 complexed with NAD+ in space group P4212 |
6O4B | 1.85 | Structure of ALDH7A1 mutant W175G complexed with NAD |
6O4C | 1.7 | Structure of ALDH7A1 mutant W175A complexed with NAD |
6O4D | 1.88 | Structure of ALDH7A1 mutant W175A complexed with L-pipecolic acid |
6O4E | 1.75 | Structure of ALDH7A1 mutant N167S complexed with NAD |
6O4F | 1.9 | Structure of ALDH7A1 mutant N167S complexed with alpha-aminoadipate |
6O4G | 2.05 | Structure of ALDH7A1 mutant P169S complexed with alpha-aminoadipate |
6O4H | 2.05 | Structure of ALDH7A1 mutant A171V complexed with NAD |
6O4I | 1.75 | Structure of ALDH7A1 mutant E399D complexed with alpha-aminoadipate |
6O4K | 2.06 | Structure of ALDH7A1 mutant E399Q complexed with NAD |
6O4L | 1.85 | Structure of ALDH7A1 mutant E399D complexed with NAD |
6U2X | 2.15 | Structure of ALDH7A1 mutant E399G complexed with NAD |
6V0Z | 2.02 | Structure of ALDH7A1 mutant R441C complexed with NAD |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006081 | cellular aldehyde metabolic process |
Biological Process | GO:0042426 | choline catabolic process |
Biological Process | GO:0019285 | glycine betaine biosynthetic process from choline |
Biological Process | GO:0007605 | sensory perception of sound |
Molecular Function | GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity |
Molecular Function | GO:0004029 | aldehyde dehydrogenase (NAD+) activity |
Molecular Function | GO:0008802 | betaine-aldehyde dehydrogenase activity |
Molecular Function | GO:0043878 | glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
Molecular Function | GO:0042802 | identical protein binding |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0070062 | extracellular exosome |
Cellular Component | GO:0005759 | mitochondrial matrix |
Cellular Component | GO:0005739 | mitochondrion |
Cellular Component | GO:0005634 | nucleus |
InterPro | InterPro name |
---|---|
IPR015590 | Aldehyde dehydrogenase domain |
IPR016161 | Aldehyde/histidinol dehydrogenase |
IPR016162 | Aldehyde dehydrogenase, N-terminal |
IPR016163 | Aldehyde dehydrogenase, C-terminal |
IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
IPR044638 | Aldehyde dehydrogenase family 7 member A1-like |
Pfam | Pfam name |
---|---|
PF00171 | Aldehyde dehydrogenase family |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-6798163 | Choline catabolism | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-71064 | Lysine catabolism | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm, cytosol | ECO:0000269 | PubMed:20207735 |
Mitochondrion | ECO:0000269 | PubMed:20207735 |
Nucleus | ECO:0000269 | PubMed:20207735 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000238 | Hydrocephalus |
HP:0000273 | Facial grimacing |
HP:0000486 | Strabismus |
HP:0000496 | Abnormality of eye movement |
HP:0000711 | Restlessness |
HP:0000737 | Irritability |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001557 | Prenatal movement abnormality |
HP:0001943 | Hypoglycemia |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002119 | Ventriculomegaly |
HP:0002123 | Generalized myoclonic seizure |
HP:0002133 | Status epilepticus |
HP:0002188 | Delayed CNS myelination |
HP:0002280 | Enlarged cisterna magna |
HP:0002521 | Hypsarrhythmia |
HP:0002643 | Neonatal respiratory distress |
HP:0003128 | Lactic acidosis |
HP:0003623 | Neonatal onset |
HP:0007359 | Focal-onset seizure |
HP:0010819 | Atonic seizure |
HP:0010841 | Multifocal epileptiform discharges |
HP:0010845 | EEG with generalized slow activity |
HP:0010851 | EEG with burst suppression |
HP:0011097 | Epileptic spasm |
HP:0011152 | Early onset absence seizures |
HP:0011166 | Focal myoclonic seizure |
HP:0011198 | EEG with generalized epileptiform discharges |
HP:0011199 | EEG with generalized sharp slow waves |
HP:0011968 | Feeding difficulties |
HP:0012420 | Meconium stained amniotic fluid |
HP:0012444 | Brain atrophy |
HP:0012704 | Widened subarachnoid space |
HP:0012758 | Neurodevelopmental delay |
HP:0012768 | Neonatal asphyxia |
HP:0020217 | Focal aware motor seizure |
HP:0020221 | Clonic seizure |
HP:0025116 | Fetal distress |
HP:0030917 | Low APGAR score |
HP:0034365 | Elevated circulating alpha-aminoadipic semialdehyde concentration |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
pyridoxine-dependent epilepsy caused by aldh7a1 mutant | MONDO:0020741 | G40 | chapter6, Diseases of the nervous system | OMIM:266100 |